GAGE2D

Summary

GAGE2D (G antigen 2D, HGNC:31959) is a protein-coding gene on chromosome Xp11.23 not on reference assembly, encoding G antigen 2D (Q9UEU5).

At a glance

• Clinical variants (ClinVar): 4 total

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31959
Approved symbol	GAGE2D
Name	G antigen 2D
Location	Xp11.23 not on reference assembly
Locus type	gene with protein product
Status	Approved
Aliases	GAGE8
OMIM	300735
Entrez	729408

Gene structure

Transcript identifiers

Ensembl transcripts: 0

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

None — 0 exons

Expression profiles

Top tissues by expression

0 total, by Bgee expression score (0-100, higher = more expressed):

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

G antigen 2D — Q9UEU5 (reviewed: Q9UEU5)

Alternative names: Cancer/testis antigen 4.8, G antigen 8

All UniProt accessions (0):

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Not expressed in normal tissues, except in testis, but expressed by a large proportion of tumors of various histological origins.

Miscellaneous. This gene belongs to a family of genes organized in clustered repeats. They have a high degree of predicted sequence identity, but differ by scattered single nucleotide substitution. Their sequences contain either the antigenic peptide YYWPRPRRY or YRPRPRRY which is recognized by cytotoxic T-cells.

Similarity. Belongs to the GAGE family.

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008625	GAGE_fam	Family
IPR031320	GAGE	Domain

Pfam: PF05831

UniProt features (5 total): compositionally biased region 3, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UEU5-F1	65.44	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

12 interactions, top by confidence:

A	B	Type	Score
GAGE8	GMCL2	psi-mi:“MI:0915”(physical association)	0.700
GMCL2	GAGE8	psi-mi:“MI:0915”(physical association)	0.700
FLJ13057	GAGE8	psi-mi:“MI:0915”(physical association)	0.560
GAGE8	FLJ13057	psi-mi:“MI:0915”(physical association)	0.560
GAGE8	WIZ	psi-mi:“MI:0914”(association)	0.350

BioGRID (10): GAGE2D (Affinity Capture-MS), GAGE2D (Positive Genetic), GMCL1 (Affinity Capture-MS), GAGE1 (Affinity Capture-MS), WIZ (Affinity Capture-MS), KCTD6 (Affinity Capture-MS), ZNF644 (Affinity Capture-MS), DPP9 (Affinity Capture-MS), EHMT2 (Affinity Capture-MS), EHMT1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0U1RQG5, A1L429, A6NDE8, A6NER3, A6NGK3, E1AZ71, O08664, O60829, O75459, O76087, P0C2W7, P0CL80, P0CL81, P0CL82, P0DSO3, P0DTW1, P52651, P62521, P86478, P86479, P86480, P86481, P86496, Q13066, Q13069, Q13070, Q17QW4, Q28181, Q2T9P9, Q32PA2, Q4V321, Q4V326, Q5JQC4, Q5U2Y8, Q62100, Q63803, Q64256, Q6NT46, Q6X7S9, Q7Z2X7

Diamond homologs: A1L429, A6NDE8, A6NER3, A6NGK3, O75459, O76087, P0CL80, P0CL81, P0CL82, P0DSO3, P0DTW1, Q13066, Q13069, Q13070, Q4V321, Q4V326, Q6NT46, Q8WTP9, Q96GT9, Q9UEU5, Q8WWM1, Q5JUK9, Q5JRK9, Q7Z2X7, Q9HD64

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

4 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	3
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

Disease associations

OMIM: gene MIM:300735 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.